Search

We present the case of a newborn with congenital absence of skin in the anterior part of the left leg that shortly after developed bulla and erosions in hands, feet, ears, buttocks and mouth. The cutaneous biopsy and ultrastructural and immunohistochemical studies showed a subepidermal bulla in the lamina lucida, absence of hemidesmosomes and marked decrease of laminin 5, thus establishing the diagnosis of Bart syndrome associated to the Herlitz form of lethal junctional epidermolysis bullosa. Bart syndrome consists of congenital and localized absence of skin, nail abnormalities and mucoc-cutaneous bullae. It is usually associated to dystrophic epidermolysis bullosa. The Herlitz form of junctional epidermolysis bullosa is a rare variant, usually lethal that is produced by mutations in the genes coding for the anchor protein laminin 5. To our knowledge this is the second case that reports an association between Bart syndrome and lethal junctional epidermolysis bullosa and the first in which the results of immunofluorescence mapping are published.

A 39 years old female patient with congenital erythroderma is reported. The condition was considered as the non bullous type of Brocq's congenital ichthyosiform erythroderma until recently. The patient was admitted as she had generalized erythema, desquamation and oedema, pyrexia and oliguria. The scales were fine and small, quite different from those of lamellar ichthyosis. The patient developed a recidivant pustular eruption on palms, face and trunk. So the diagnosis was changed to congenital psoriasiform erythroderma and this was supported by histopathological examination of both scaling and pustular lesions. There was a remarkable improvement on amethopterin therapy. The case is discussed and the relevant litterature is reviewed.